Phenotypes Associated with This Genotype

Genotype
MGI:3513510

• Allelic Composition: Rpe65^rd12/Rpe65^rd12
• Genetic Background: B6(A)-Rpe65^rd12/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal retina rod cell outer segment morphology ( J:94549 )

• light microscopic examination of eyes of 6 week-old mutant mice reveals occasional small voids in the rod outer segments, which become progressively larger and more numerous

• at 3 months of age, the rod outer segments are of normal thickness; by 27 months the rod outer segments are almost absent

thin retina outer nuclear layer ( J:94549 )

• at 3 months of age, the outer nuclear layer is of normal thickness; by 7 months, the outer nuclear layer is reduced by 30%, and by 27 months the outer nuclear layer is only one-third normal thickness

increased susceptibility to age-related retinal degeneration ( J:94549 )

• ophthalmoscopic examination of the fundus reveals small white spots evenly scattered across the mutant retina by 5 months of age; by 15 months, the fundus appears granular and mottled

• at 3 months of age, both the rod outer segments and the outer nuclear layer are of normal thickness; by 7 months, the outer nuclear layer is reduced by 30%, and by 27 months the rod outer segments are almost absent and the outer nuclear layer is only one-third normal thickness

abnormal eye electrophysiology ( J:94549 )

• electroretinographic (ERG) analysis reveals progressive loss of retinal function

• the ERG b-wave amplitude of mutant mice decreases as the mice age

abnormal cone electrophysiology ( J:94549 )

• the light-adapted ERG response is delayed and exhibits progressive diminution of amplitude with the age of the mice

abnormal rod electrophysiology ( J:94549 )

• by three weeks of age, homozygous mice exhibit a poor dark-adapted (rod) ERG response

nervous system

abnormal retina rod cell outer segment morphology ( J:94549 )

• light microscopic examination of eyes of 6 week-old mutant mice reveals occasional small voids in the rod outer segments, which become progressively larger and more numerous

• at 3 months of age, the rod outer segments are of normal thickness; by 27 months the rod outer segments are almost absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 2		DOID:0110016	OMIM:204100	J:104929